Genotypic classification of patients with Wolfram syndrome: Insights into the natural history of the disease and correlation with phenotype

Genetics in Medicine

Volumn 15, Issue 7, 2013, Pages 497-506

  De Heredia, Miguel López ^a,b   Clèries, Ramón ^b,c   Nunes, Virginia ^a,b,c  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

disease progression; genotype phenotype correlation; mutation distribution; natural history; WFS1; Wolfram syndrome

Indexed keywords

PROTEIN; UNCLASSIFIED DRUG; WFS1 PROTEIN;

ADOLESCENT; ADULT; CLINICAL FEATURE; DIABETES INSIPIDUS; DIABETES MELLITUS; DISEASE CLASSIFICATION; DISEASE COURSE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MEDICAL HISTORY; ONSET AGE; OPTIC NERVE ATROPHY; PROTEIN EXPRESSION; REVIEW; WOLFRAM SYNDROME;

EID: 84880529363     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.180     Document Type: Review

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